NM_000128.4(F11):c.484C>T (p.Arg162Cys) AND Plasma factor XI deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 30, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001834598.1
Allele description [Variation Report for NM_000128.4(F11):c.484C>T (p.Arg162Cys)]
NM_000128.4(F11):c.484C>T (p.Arg162Cys)
Condition(s)
- Name:
- Plasma factor XI deficiency
- Identifiers:
-
protein MAL2 [Homo sapiens]
protein MAL2 [Homo sapiens]gi|16418397|ref|NP_443118.1|Protein
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Last Updated: Mar 30, 2024